Fabry disease

Disease Term Disease ID Gene Symbol Classification References Source
Fabry disease 324 GLA Causal Pathogenic evidence from ClinVar - ClinVar
Fabry Disease C0002986 GLA Causal Pathogenic evidence from ClinVar 1315715, 1846223, 2152885, 2171331, 2393552, 2539398, 6020428, 7504405, 7531540, 7575533, 7596372, 7599642, 7759078, 7911050, 8069316, 8395937, 8738659, 8807334, 8834244, 8863162, 8875188, 8878432, 8931708, 9100224, 9105656, 9116979, 9122231, 9395081, 9452068, 9452090, 9452111, 9554750, 9883849, 10090526, 10208848, 10649504, 10666480, 10838196, 10916280, 11076046, 11295840, 11322659, 11531969, 11668641, 11688386, 11804208, 11828341, 11889412, 11914245, 12175777, 12428061, 12668521, 12694230, 12778775, 12786754, 12920095, 12938095, 15025684, 15091117, 15100373, 15162124, 15339079, 15702404, 15712228, 15713906, 15776423, 15806320, 16215932, 16533976, 16595074, 16773563, 17206462, 17452128, 17532296, 17555407, 17804462, 18033242, 18154965, 18205205, 18387337, 18424138, 18565198, 18596132, 18698230, 18849176, 19287194, 19387866, 19621417, 19823873, 19925601, 19941952, 20022777, 20031620, 20110537, 20122163, 20367968, 20505683, 20615758, 20628902, 20821055, 21092187, 21138548, 21598360, 21896204, 21946453, 2197217 ClinVar
AGA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GLB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NAGA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RPL36A-HNRNPH2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1315715, 2152885, 2171331, 2393552, 2539398, 7504405, 7531540, 7575533, 7911050, 8069316, 8395937, 8738659, 8807334, 8875188, 8878432, 9100224, 9116979, 9395081, 9452068, 9452111, 9883849, 10090526, 10208848, 10649504, 10666480, 10838196, 10916280, 11322659, 11531969, 11668641, 11688386, 11804208, 11828341, 11889412, 11914245, 12175777, 12428061, 12668521, 12778775, 12786754, 12920095, 12938095, 15091117, 15100373, 15339079, 15702404, 15712228, 15713906, 15776423, 15806320, 16215932, 16533976, 16595074, 16773563, 17206462, 17452128, 17532296, 17555407, 17804462, 18154965, 18205205, 18387337, 18424138, 18596132, 18698230, 18849176, 19287194, 19387866, 19621417, 19823873, 19941952, 20022777, 20031620, 20110537, 20122163, 20367968, 20505683, 20615758, 20628902, 20821055, 21092187, 21138548, 21598360, 21896204, 21946453, 21972175, 22004918, 22078290, 22176145, 22227322, 22241068, 22437327, 22551898, 22773828, 23109060, 23219219, 23306324, 23332617, 23378663, 23430526, 23537685, 23566439, 23568732, 23591357, 23935 -